Dwarfism with Retinal Atrophy and Deafness

نویسندگان

چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Diagnosis and characterization of duck beak atrophy and dwarfism syndrome in Chongqing of China

Duck beak atrophy and dwarfism syndrome (BADS) is a newly emerged disease in China since 2015. In October 2017, an unidentified disease occurred in Cherry Valley ducks, Chongqing municipality, the southwest of China. The affected birds showed short beak and growth retardation clinical signs. The disease caused approximately 20.00% morbidity and serious weight loss due to retarded growth. In ord...

متن کامل

Clinical studies on progressive retinal atrophy in 31 dogs

During a 2-year period, 31 cases of a hereditary retinal degeneration in dogs bred in India were found mainly suspected for progressive retinal atrophy (PRA) with typical history of initial nyctalopia followed by hemeralopia. Out of 31 PRA suspected dogs, 8 dogs (26%) were from the age group of 1-5 years, 15 (48%) 6-10 years and the rest (26%) 11-15 years. The most predominant breed was Spitz (...

متن کامل

Optic atrophy and nerve deafness in diabetes mellitus.

The belief, once held, that an aetiological relationship exists between diabetes mellitus and optic atrophy is not now generally accepted. The observations of early authors such as Allbutt (1871) and von Noorden (1917), who regarded optic atrophy as a diabetic complication, may have been partially vitiated by the fact that both visual loss and changes in the optic discs may result from other oc...

متن کامل

Wolfram Syndrome (Diabetes Insipidus, Diabetes, Optic Atrophy, and Deafness)

OBJECTIVE Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by diabetes insipidus, diabetes (nonautoimmune), optic atrophy, and deafness (a set of conditions referred to as DIDMOAD). The WFS1 gene is located on the short arm of chromosome 4. Wolfram syndrome prevalence is 1 in 770,000 live births, with a 1 in 354 carrier frequency. RESEARCH DESIGN AND METHODS...

متن کامل

Maternally Inherited Diabetes and Deafness (MIDD) with Undetectable C- Peptide Level and Cerebellar Atrophy

Maternally inherited diabetes and deafness (MIDD), also called mitochondrial diabetes mellitus, is a rare form of diabetes that comprises 0.5-2.8% of the diabetic population. Most cases of MIDD are associated with a point mutation in the mitochondrial DNA (mtDNA) at position 3243 of the leucine tRNA gene (A3243G) . Patients with MIDD are characterized by 1) young onset of diabetes, 2) absence o...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Archives of Disease in Childhood

سال: 1946

ISSN: 0003-9888,1468-2044

DOI: 10.1136/adc.21.105.52